Please use this identifier to cite or link to this item:
http://hdl.handle.net/10553/48637
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Von Bernuth, Horst | en_US |
dc.contributor.author | Ku, Cheng Lung | en_US |
dc.contributor.author | Rodriguez-Gallego, Carlos | en_US |
dc.contributor.author | Zhang, Shenying | en_US |
dc.contributor.author | Garty, Ben Zion | en_US |
dc.contributor.author | Maródi, László | en_US |
dc.contributor.author | Chapel, Helen | en_US |
dc.contributor.author | Chrabieha, Maya | en_US |
dc.contributor.author | Miller, Richard L. | en_US |
dc.contributor.author | Picard, Capucine | en_US |
dc.contributor.author | Puel, Anne | en_US |
dc.contributor.author | Casanova, Jean Laurent | en_US |
dc.date.accessioned | 2018-11-23T23:37:27Z | - |
dc.date.available | 2018-11-23T23:37:27Z | - |
dc.date.issued | 2006 | en_US |
dc.identifier.issn | 0031-4005 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/48637 | - |
dc.description.abstract | Objectives: Inborn defects in Toll-like receptor signaling are recently described primary immunodeficiencies that predispose affected children to life-threatening infections. Patients with interleukin-1 receptor-associated kinase-4 deficiency are prone to invasive pneumococcal disease, and patients with UNC-93B deficiency are prone to herpes simplex virus encephalitis. These genetic disorders are underdiagnosed, partly because diagnosis currently requires expensive and time-consuming techniques available at only a few specialized centers worldwide. We, therefore, aimed to develop a cheap and fast test for the detection of defects in Toll-like receptor signaling. Patients and methods: We used flow cytometry to evaluate the cleavage of membrane-bound L-selectin on granulocytes in 38 healthy controls and in 7 patients with genetically defined Toll-like receptor signaling defects (5 patients with interleukin-1 receptor-associated kinase-4 deficiency and 2 patients with UNC-93B deficiency), on activation with various Toll-like receptor agonists. Results: Impaired L-selectin shedding was observed with granulocytes from all of the interleukin-1 receptor-associated kinase-4-deficient patients on activation with agonists of Toll-like receptors 1/2, 2/6, 4, 7, and 8 and with granulocytes from all of the UNC-93B-deficient patients on activation with agonists of Toll-like receptors 7 and 8. All of the healthy controls responded to these stimuli. Conclusions: The assessment of membrane-bound L-selectin cleavage on granulocytes by flow cytometry may prove useful for the detection of primary immunodeficiencies in the Toll-like receptor pathway, such as interleukin-1 receptor-associated kinase-4 deficiency and UNC-93B deficiency. This procedure is cheap and rapid. It may, therefore, be suitable for routine testing worldwide in children with invasive pneumococcal disease and in patients with herpes simplex encephalitis. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Pediatrics | en_US |
dc.source | Pediatrics[ISSN 0031-4005],v. 118, p. 2498-2503 | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 320110 Pediatría | en_US |
dc.subject.other | Flow cytometry | en_US |
dc.subject.other | Interleukin-1 | en_US |
dc.subject.other | Signal transduction | en_US |
dc.title | A fast procedure for the detection of defects in toll-like receptor signaling | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1542/peds.2006-1845 | en_US |
dc.identifier.scopus | 33947158653 | - |
dc.contributor.authorscopusid | 55983430500 | - |
dc.contributor.authorscopusid | 7101950604 | - |
dc.contributor.authorscopusid | 6602114379 | - |
dc.contributor.authorscopusid | 36019693200 | - |
dc.contributor.authorscopusid | 7006447332 | - |
dc.contributor.authorscopusid | 7005046352 | - |
dc.contributor.authorscopusid | 7005426128 | - |
dc.contributor.authorscopusid | 16038567400 | - |
dc.contributor.authorscopusid | 55574232686 | - |
dc.contributor.authorscopusid | 7101616884 | - |
dc.contributor.authorscopusid | 6602102891 | - |
dc.contributor.authorscopusid | 7201863327 | - |
dc.description.lastpage | 2503 | en_US |
dc.description.firstpage | 2498 | en_US |
dc.relation.volume | 118 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.description.numberofpages | 5 | en_US |
dc.utils.revision | Sí | en_US |
dc.date.coverdate | Diciembre 2006 | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.jcr | 5,012 | - |
dc.description.jcrq | Q1 | - |
dc.description.scie | SCIE | - |
dc.description.erihplus | ERIH PLUS | |
item.grantfulltext | none | - |
item.fulltext | Sin texto completo | - |
crisitem.author.dept | GIR IUIBS: Farmacología Molecular y Traslacional | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.orcid | 0000-0002-4344-8644 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Rodríguez Gallego, José Carlos | - |
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